Primary hypomagnesemia is a rare inherited disorder and it is considered to be due to either a defect in the intestinal transport of magnesium or a defect in renal tubular transport. It is important to measure the urinary excretion of magnesium to differentiate the causes of magnesium deficiency. We report here an one-month-old female infant of primary hypomagnesemia who presented generalized tonic-clonic seizures. She had hypomagnesemia(<1.5mg/dL) and several seizure attacks but normal magnesium creatinine ratio in random urine and normal magnesium excretion in 24-hour urine. Continuous oral magnesium supplementation was necessary to avoid the recurrence of symptoms and maintain serum rnagnesium levels.
Creatinine ; Female ; Humans ; Infant ; Magnesium ; Magnesium Deficiency ; Recurrence ; Seizures

Agenesis of corpus callosum occurs sporadically and may be transmitted as sex-linked, or autosomal-dominant or recessive traits. It has been associated with different syndromes. Clinical pictures vary from severe intellectual and neurologic abnormalities to asymptomatic and normaly intelligent cases. Agenesis of corpus callosum may occur alone, but it is more frequently associated with a high incidence of other anomalies. We report a male infant with agenesis of corpus callosum who was diagnosed to have ileal atresia and duplication.
Agenesis of Corpus Callosum* ; Corpus Callosum* ; Humans ; Incidence ; Infant ; Male

No abstract available.
Ultrasonography*

No abstract available.
Compressed Air* ; Explosions* ; Orbit* ; Orbital Cellulitis*

BACKGROUNDS: Rheumatoid factor (RF) is common serological marker for the diagnosis of rheumatoid arthritis (RA), but its sensitivity and specificity are not satisfactory for the diagnosis of RA. Therefore, we investigated the diagnostic performance of a new antifilaggrin antibody test by enzyme linked immunosorbent assay (ELISA) in RA. METHODS: Recombinant human filaggrin was deiminated in vitro by peptidylarginine deiminase and used as the coating antigen for ELISA. We performed the RF and the antifilaggrin antibody for 324 RA patients, 251 non-RA patients (rheumatic diseases other than RA), and 286 normal individuals and evaluated the sensitivities and specificities of RF and antifilaggrin antibody. Optimal cut off values were calculated as mean+2SD in 95% confidence interval except 3SD for 286 normal individuals. Optimal cut off values of antifilaggrin antibody and RF were 9.6 U/ml and 12 U/ml, respectively. RESULTS: The sensitivities and specificities of antifilaggrin antibody were 44.8% and 89.2% at optimal cut off values. The sensitivity and specificity of RF were 75.0% and 83.3%. Combination of "antifilaggrin antibody and RF" showed significantly high specificity of 95.2% and that of "antifilaggrin antibody or RF" showed slightly high sensitivity of 79.3% at optimal cut off values. Antifilaggrin antibody was positive in 17.3% among 81 sero-negative RA patients. CONCLUSION: We considered that antifilaggrin antibody could be used a supplementary test of RF for the diagnosis of RA, because "antifilaggrin antibody and RF" had higher diagnostic specificity than RF alone and antifilaggrin antibody test was easy, convenient ELISA method in performance.
Arthritis, Rheumatoid* ; Diagnosis ; Enzyme-Linked Immunosorbent Assay ; Humans ; Rheumatoid Factor ; Sensitivity and Specificity

OBJECTIVES: Klinefelter syndrome is the most common genetic cause of male infertility and presents with 47, XXY mainly or 46, XX/47, XXY mosaicism. It is characterized by hypogonadism and azoospermia due to testicular failure, however, sporadic cases of natural pregnancies have been reported. With the development of testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI), sperm can be retrieved successfully and ART is applied in these patients for pregnancy. It has been suggested that the risk of chromosome aneuploidy for both sex chromosome and autosome is increased in the sperms from 47, XXY germ cells. Considering the risk for chromosomal aneuploidy in the offspring, preimplantation genetic diagnosis (PGD) could be applied as a safe and more effective treatment option in Klinefelter syndrome. The aim of this study is to assess the outcome of PGD cycles by using FISH for sex chromosome and autosome in patients with Klinefelter syndrome. MATERIALS AND METHODS: From Jan. 2001 to Dec. 2003, PGD was attempted in 8 cases of Klinefelter syndrome but TESE was failed to retrieve sperm in the 3 cases, therefore PGD was performed in 8 cycles of 5 cases (four 47, XXY and one 46, XY/47, XXY mosaicism). In one case, ejaculated sperm was used and in 4 cases, TESE sperm was used for ICSI. After fertilization, blastomere biopsy was performed in 6~10 cell stage embryo and the chromosome aneuploidy was diagnosed by using FISH with CEP probes for chromosome X, Y and 17 or 18. RESULTS: A total of 127 oocytes were retrieved and ICSI was performed in 113 mature oocytes. The fertilization rate was 65.3+/-6.0% (mean+/-SEM) and 76 embryos were obtained. Blastomere biopsy was performed in 61 developing embryos and FISH analysis was successful in 95.1% of the biopsied blastomeres (58/61). The rate of balanced embryos for chromosome X, Y and 17 or 18 was 39.7+/-6.9%. The rate of aneuploidy for sex chromosome (X and Y) was 45.9+/-5.3% and 43.2+/-5.8% for chromosome 17 or 18, respectively. Embryo transfer was performed in all 8 cycles and mean number of transferred embryos was 2.5+/-0.5. In 2 cases, clinical pregnancies were obtained and normal 46, XX and 46, XY karyotypes were confirmed by amniocentesis, respectively. Healthy male and female babies were delivered uneventfully at term. CONCLUSION: The patients with Klinefelter syndrome can benefit from ART with TESE and ICSI. Considering the risk of aneuploidy for both sex chromosome and autosome in the sperms and embryos of Klinefelter syndrome, PGD could be offered as safe and more effective treatment option.
Amniocentesis ; Aneuploidy ; Azoospermia ; Biopsy ; Blastomeres ; Chromosomes, Human, Pair 17 ; Embryo Transfer ; Embryonic Structures ; Female ; Fertilization ; Germ Cells ; Humans ; Hypogonadism ; Infertility, Male ; Karyotype ; Klinefelter Syndrome* ; Male ; Mosaicism ; Oocytes ; Pregnancy ; Preimplantation Diagnosis* ; Prostaglandins D ; Sex Chromosomes ; Sperm Injections, Intracytoplasmic ; Spermatozoa

BACKGROUND: The epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs), became an attractive therapeutic option for advanced non-small-cell lung cancer (NSCLC). Several studies suggested that there might be some different efficacy or response predictors between gefitinib and erlotinib. We compared the efficacy and toxicity of gefitinib and erlotinib in Korean patients with advanced NSCLC and evaluated specific predictors of response for both gefitinib and erlotinib. METHODS: We collected the clinical information on patients with advanced NSCLC, who were treated with gefitinib or erlotinib at the Ewha Womans University Hospital, between July 2003 and February 2009. Median survival times were calculated using the Kaplan-Meier method. RESULTS: Eighty-six patients (52 gefitinib vs. 34 erlotinib) were enrolled. Patient median age was 64 years; 53 (62%) subjects were male. Out of the 86 patients treated, 83 received response evaluation. Of the 83 patients, 35 achieved a response and 12 experienced stable disease while 36 experienced progressive disease, resulting in a response rate of 42% and a disease control rate of 57%. After a median follow-up of 502 days, the median progression-free and overall survival time was 129 and 259 days, respectively. Comparing patients by treatment (gefitinib vs erlotinib), there were no significant differences in the overall response rate (44% vs. 39%, p=0.678), median survival time (301 days vs. 202 days, p=0.151), or time to progression (136 days vs. 92 days, p=0.672). Both EGFR-TKIs showed similar toxicity. In a multivariate analysis using Cox regression model, adenocarcinoma was an independent predictor of survival (p=0.006; hazard ratio [HR], 0.487; 95% confidence interval [CI], 0.292-0.811). Analyses of subgroups did not show any difference in response predictors between gefitinib and erlotinib. CONCLUSION: Comparing gefitinib to erlotinib, there were no differences in the response rate, overall survival, progression-free survival, or toxicity. No specific predictor of response to each EGFR-TKI was identified.
Adenocarcinoma ; Carcinoma, Non-Small-Cell Lung ; Disease-Free Survival ; Female ; Follow-Up Studies ; Humans ; Lung ; Lung Neoplasms ; Male ; Multivariate Analysis ; Protein-Tyrosine Kinases ; Quinazolines ; Receptor, Epidermal Growth Factor ; Erlotinib Hydrochloride

PURPOSE: To investigate the clinical presentation and treatment outcomes of recurrent corneal erosion patients. METHODS: Retrospective analysis was performed on the medical records of 48 patients (53 eyes) diagnosed with recurrent corneal erosion by our ophthalmology department between January 2008 and March 2015. Patient age, gender, lesion location, and cause of disease were analyzed against occurrence of disease. Patients were classified by treatment method into group A, which was treated with eye drops; group B, which was treated with therapeutic contact lenses and eye drops; group C, which was treated with amniotic membrane transplantation; and group D, which was treated with other procedures, and the recurrence rates were compared. RESULTS: The mean age of patients was 45.6 ± 14.3 years (19-76 years), with no significant difference in recurrence rates dependent on gender or eye. Patients in their 50s were most affected, excluding refractive surgery patients. The most frequent lesion location was the inferior area of the cornea (58.5%), followed by the central area (30.2%), and the most common cause of disease was trauma, followed by unknown causes, past refractive surgery, and complications from other eye diseases. Group A had 11 eyes (20.8%), while groups B, C, and D had 30 eyes (56.6%), 8 eyes (15.1%) and 4 eyes (7.3%), respectively. The recurrence rates according to treatment method were 27.3% in group A, 23.3% in group B, and 12.5% in group C. The lower recurrence rate in the group treated with amniotic membrane transplantation was not significant compared to that of conservatively treated groups. CONCLUSIONS: Recurrent corneal erosion mostly affects patients in their 50s, excluding refractive surgery patients, and occurs frequently in the inferior area of the cornea due to mild trauma. Surgical treatment including amniotic membrane transplantation should be considered instead of conservative treatment in order to prevent reoccurrence.
Amnion ; Contact Lenses ; Cornea ; Eye Diseases ; Humans ; Medical Records ; Ophthalmic Solutions ; Ophthalmology ; Recurrence ; Refractive Surgical Procedures ; Retrospective Studies

PURPOSE: To investigate the clinical presentation and treatment outcomes of recurrent corneal erosion patients. METHODS: Retrospective analysis was performed on the medical records of 48 patients (53 eyes) diagnosed with recurrent corneal erosion by our ophthalmology department between January 2008 and March 2015. Patient age, gender, lesion location, and cause of disease were analyzed against occurrence of disease. Patients were classified by treatment method into group A, which was treated with eye drops; group B, which was treated with therapeutic contact lenses and eye drops; group C, which was treated with amniotic membrane transplantation; and group D, which was treated with other procedures, and the recurrence rates were compared. RESULTS: The mean age of patients was 45.6 ± 14.3 years (19-76 years), with no significant difference in recurrence rates dependent on gender or eye. Patients in their 50s were most affected, excluding refractive surgery patients. The most frequent lesion location was the inferior area of the cornea (58.5%), followed by the central area (30.2%), and the most common cause of disease was trauma, followed by unknown causes, past refractive surgery, and complications from other eye diseases. Group A had 11 eyes (20.8%), while groups B, C, and D had 30 eyes (56.6%), 8 eyes (15.1%) and 4 eyes (7.3%), respectively. The recurrence rates according to treatment method were 27.3% in group A, 23.3% in group B, and 12.5% in group C. The lower recurrence rate in the group treated with amniotic membrane transplantation was not significant compared to that of conservatively treated groups. CONCLUSIONS: Recurrent corneal erosion mostly affects patients in their 50s, excluding refractive surgery patients, and occurs frequently in the inferior area of the cornea due to mild trauma. Surgical treatment including amniotic membrane transplantation should be considered instead of conservative treatment in order to prevent reoccurrence.
Amnion ; Contact Lenses ; Cornea ; Eye Diseases ; Humans ; Medical Records ; Ophthalmic Solutions ; Ophthalmology ; Recurrence ; Refractive Surgical Procedures ; Retrospective Studies

BACKGROUND: To assess the association between ambient particulate matter and cardiovascular death in seven cities in the Republic of Korea during the period of 2002-2008. METHODS: A time-stratified case-crossover design was used to examine association between particulate matter and deaths from cardiovascular or cerebrovascular disease; hypertensive disease 12,821, ischemic heart disease 39,577, cardiac arrhythmia 1,627, cerebrovascular disease 88,047. Mortality data was obtained from National Statistical Office, and hourly mean concentrations of particulate matter < or = 10 microm in aerodynamic diameter and meteorological data were obtained from the Ministry of Environment. The percent increase in the risk of death associated with an interquartile range increase in particulate matter was determined by conditional logistic regression analysis after adjusting for national holidays and meteorological factors. RESULTS: The largest association was a 0.8% increase (95% confidence interval [CI], 0.1-1.6) in death risk related to an interquartile range increase in particulate matter < or = 10 microm (average of 0 to 2 days prior to the day of death). Classified as the cause of death, the association was a 1.2% increase (95% CI, 0.2-2.2) in death from cerebrovascular disease related to an interquartile range increase in particulate matter < or = 10 microm. But others were statistically not significant. After stratification of death cases by year of death, statistically significant associations were a 2.3% increase (95% CI, 0.1-4.4) in death risk from ischemic heart disease in 2002-2004 and 2.0% increase in death from cerebrovascular disease (95% CI, 0.3-3.8) in 2006-2008. CONCLUSIONS: Our results suggest that ambient air pollution increases the risk of deaths from cardiovascular and cerebrovascular disease in the Republic of Korea.
Air Pollution ; Arrhythmias, Cardiac ; Cardiovascular Diseases ; Cause of Death ; Cerebrovascular Disorders ; Cross-Over Studies ; Holidays ; Logistic Models ; Myocardial Ischemia ; Particulate Matter ; Republic of Korea